MUC16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 3044590	NM_001401501.2(MUC16):c.43651+9G>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GBenign
Select item 3058931	NM_001401501.2(MUC16):c.45922G>C (p.Val15308Leu)	MUC16 (V14466L +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3056717	NM_001401501.2(MUC16):c.45836C>T (p.Ser15279Phe)	MUC16 (S14437F +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 2649213	NM_001401501.2(MUC16):c.45714G>A (p.Ser15238=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035510	NM_001401501.2(MUC16):c.45693G>A (p.Val15231=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 2649214	NM_001401501.2(MUC16):c.45526T>C (p.Tyr15176His)	MUC16 (Y14334H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3037390	NM_001401501.2(MUC16):c.43143-9T>A	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 2649215	NM_001401501.2(MUC16):c.45437T>G (p.Val15146Gly)	MUC16 (V14304G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3045941	NM_001401501.2(MUC16):c.45426G>A (p.Val15142=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3033479	NM_001401501.2(MUC16):c.45283A>G (p.Thr15095Ala)	MUC16 (T14253A +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3039750	NM_001401501.2(MUC16):c.45254T>C (p.Leu15085Pro)	MUC16 (L14243P +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 2649216	NM_001401501.2(MUC16):c.45209G>A (p.Arg15070Lys)	MUC16 (R14228K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3040472	NM_001401501.2(MUC16):c.44992G>A (p.Gly14998Arg)	MUC16 (G14156R +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 2649217	NM_001401501.2(MUC16):c.44991C>G (p.Pro14997=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052727	NM_001401501.2(MUC16):c.44922G>A (p.Arg14974=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3051705	NM_001401501.2(MUC16):c.42380+5G>A	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3043286	NM_001401501.2(MUC16):c.42380+4C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3038195	NM_001401501.2(MUC16):c.44674C>G (p.Pro14892Ala)	MUC16 (P14050A +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3051822	NM_001401501.2(MUC16):c.42344+9C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3056808	NM_001401501.2(MUC16):c.44589T>C (p.His14863=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3056085	NM_001401501.2(MUC16):c.44535C>T (p.Ser14845=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3059793	NM_001401501.2(MUC16):c.44530C>T (p.Leu14844Phe)	MUC16 (L14002F +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3038145	NM_001401501.2(MUC16):c.44498G>A (p.Arg14833Gln)	MUC16 (R13991Q +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 2649218	NM_001401501.2(MUC16):c.44484C>T (p.Asn14828=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3358889	NM_001401501.2(MUC16):c.44440C>T (p.Arg14814Trp)	MUC16 (R13972W +3 more)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 3058901	NM_001401501.2(MUC16):c.44395C>A (p.Gln14799Lys)	MUC16 (Q13957K +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3055565	NM_001401501.2(MUC16):c.44332C>T (p.Arg14778Cys)	MUC16 (R13936C +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GLikely benign
Select item 2649219	NM_001401501.2(MUC16):c.44301A>G (p.Pro14767=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056281	NM_001401501.2(MUC16):c.41978+10C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3055401	NM_001401501.2(MUC16):c.44277C>T (p.Ser14759=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3044755	NM_001401501.2(MUC16):c.44277C>G (p.Ser14759Arg)	MUC16 (S13917R +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3057192	NM_001401501.2(MUC16):c.44268C>A (p.Pro14756=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056836	NM_001401501.2(MUC16):c.44267C>T (p.Pro14756Leu)	MUC16 (P13914L +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3055949	NM_001401501.2(MUC16):c.44265A>G (p.Val14755=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056381	NM_001401501.2(MUC16):c.44244T>C (p.Gly14748=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056046	NM_001401501.2(MUC16):c.41943-6G>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3057217	NM_001401501.2(MUC16):c.41942+6C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GBenign
Select item 3056015	NM_001401501.2(MUC16):c.44232C>G (p.Leu14744=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3042103	NM_001401501.2(MUC16):c.44189G>A (p.Ser14730Asn)	MUC16 (S13888N +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3042045	NM_001401501.2(MUC16):c.44172G>A (p.Leu14724=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3042351	NM_001401501.2(MUC16):c.44165T>G (p.Leu14722Trp)	MUC16 (L13880W +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3042258	NM_001401501.2(MUC16):c.44163T>C (p.Tyr14721=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3041683	NM_001401501.2(MUC16):c.44136C>A (p.Gly14712=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 718464	NM_001401501.2(MUC16):c.44076G>A (p.Glu14692=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3056190	NM_001401501.2(MUC16):c.41769+10G>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3056305	NM_001401501.2(MUC16):c.41769+7A>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3049986	NM_001401501.2(MUC16):c.44055G>A (p.Arg14685=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3048498	NM_001401501.2(MUC16):c.43862C>T (p.Ser14621Leu)	MUC16 (S13779L +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 2584717	NM_001401501.2(MUC16):c.43669del (p.Ser14557fs)	MUC16 (S13715fs +3 more)	Deletion (frameshift variant)	Ovarian cancer	GLikely pathogenic
Select item 777411	NM_001401501.2(MUC16):c.43638T>G (p.Asp14546Glu)	MUC16 (D13704E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3060748	NM_001401501.2(MUC16):c.41237-16TCTCCC[3]	MUC16	Microsatellite (intron variant)	MUC16-related disorder	GBenign
Select item 3056588	NM_001401501.2(MUC16):c.41236+9_41236+16del	MUC16	Deletion (intron variant)	MUC16-related disorder	GLikely benign
Select item 3055773	NM_001401501.2(MUC16):c.43533C>T (p.Gly14511=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3055660	NM_001401501.2(MUC16):c.43527T>G (p.Leu14509=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3055712	NM_001401501.2(MUC16):c.43524C>T (p.Val14508=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3057103	NM_001401501.2(MUC16):c.43494C>T (p.Gly14498=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3055752	NM_001401501.2(MUC16):c.43485G>A (p.Gln14495=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056002	NM_001401501.2(MUC16):c.43476G>A (p.Glu14492=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3037722	NM_001401501.2(MUC16):c.43473G>A (p.Glu14491=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056495	NM_001401501.2(MUC16):c.43467G>T (p.Arg14489=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056429	NM_001401501.2(MUC16):c.43449C>T (p.Phe14483=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3055755	NM_001401501.2(MUC16):c.43441C>T (p.Leu14481Phe)	MUC16 (L13639F +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3037838	NM_001401501.2(MUC16):c.43440T>C (p.Thr14480=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3055446	NM_001401501.2(MUC16):c.43433T>C (p.Leu14478Pro)	MUC16 (L13636P +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3056847	NM_001401501.2(MUC16):c.43431G>A (p.Val14477=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3056844	NM_001401501.2(MUC16):c.43429G>A (p.Val14477Met)	MUC16 (V13635M +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3037563	NM_001401501.2(MUC16):c.43426C>T (p.Leu14476=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3034263	NM_001401501.2(MUC16):c.43413T>C (p.Ala14471=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3350518	NM_001401501.2(MUC16):c.41112-5_41112-4insCTTT	MUC16	Insertion (intron variant)	MUC16-related disorder	GLikely benign
Select item 3350361	NM_001401501.2(MUC16):c.41112-10_41112-7del	MUC16	Deletion (intron variant)	MUC16-related disorder	GLikely benign
Select item 3053645	NM_001401501.2(MUC16):c.41112-10T>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3034179	NM_001401501.2(MUC16):c.43377A>C (p.Thr14459=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3044318	NM_001401501.2(MUC16):c.41046-3C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3060518	NM_001401501.2(MUC16):c.40837-10C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3058170	NM_001401501.2(MUC16):c.40836+10G>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3035291	NM_001401501.2(MUC16):c.40836+8C>T	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3058683	NM_001401501.2(MUC16):c.40836+7A>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3059823	NM_001401501.2(MUC16):c.43113T>C (p.Ser14371=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060592	NM_001401501.2(MUC16):c.43098T>C (p.Val14366=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059742	NM_001401501.2(MUC16):c.43089C>T (p.Asn14363=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060690	NM_001401501.2(MUC16):c.43077T>C (p.Pro14359=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 2649220	NM_001401501.2(MUC16):c.40768+5G>A	MUC16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3040995	NM_001401501.2(MUC16):c.43044C>G (p.Thr14348=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 2649221	NM_001401501.2(MUC16):c.42945C>T (p.Thr14315=)	MUC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060849	NM_001401501.2(MUC16):c.40643+9T>C	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GBenign
Select item 3059645	NM_001401501.2(MUC16):c.42941T>C (p.Met14314Thr)	MUC16 (M13472T +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060313	NM_001401501.2(MUC16):c.42939C>T (p.Pro14313=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GBenign
Select item 3344563	NM_001401501.2(MUC16):c.42913A>G (p.Arg14305Gly)	MUC16 (R13463G +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GUncertain significance
Select item 3049972	NM_001401501.2(MUC16):c.42905C>T (p.Ala14302Val)	MUC16 (A13460V +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3059801	NM_001401501.2(MUC16):c.40541+8A>G	MUC16	Single nucleotide variant (intron variant)	MUC16-related disorder	GLikely benign
Select item 3060239	NM_001401501.2(MUC16):c.42838A>G (p.Asn14280Asp)	MUC16 (N13438D +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GLikely benign
Select item 3060042	NM_001401501.2(MUC16):c.42823C>G (p.His14275Asp)	MUC16 (H13433D +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3046028	NM_001401501.2(MUC16):c.42795T>G (p.Thr14265=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3060226	NM_001401501.2(MUC16):c.42766A>G (p.Lys14256Glu)	MUC16 (K13414E +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3060538	NM_001401501.2(MUC16):c.42755G>A (p.Arg14252Gln)	MUC16 (R13410Q +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign
Select item 3037304	NM_001401501.2(MUC16):c.42754C>A (p.Arg14252=)	MUC16	Single nucleotide variant (synonymous variant)	MUC16-related disorder	GLikely benign
Select item 3059671	NM_001401501.2(MUC16):c.42745G>A (p.Asp14249Asn)	MUC16 (D13407N +3 more)	Single nucleotide variant (missense variant)	MUC16-related disorder	GBenign

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